Gene >> SMO
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000249373 |
| Start |
129212302:129212302(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2215C>T |
| AA Mutation |
p.Pro739Ser(p.P739S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000249373 |
| Start |
129210420:129210420(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1524G>T |
| AA Mutation |
p.Glu508Asp(p.E508D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |